ClinVar Miner

List of variants reported as likely pathogenic for congenital sucrase-isomaltase deficiency

Included ClinVar conditions (1):
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168 0.00108
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00034
NM_001041.4(SI):c.2828G>C (p.Cys943Ser) rs375113759 0.00020
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter) rs142090504 0.00014
NM_001041.4(SI):c.4133T>G (p.Ile1378Ser) rs148831941 0.00012
NM_001041.4(SI):c.1837G>T (p.Glu613Ter) rs201055347 0.00004
NM_001041.4(SI):c.373+1G>A rs772671498 0.00004
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419 0.00003
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter) rs200328403 0.00003
NM_001041.4(SI):c.5248-2A>C rs1298467427 0.00002
NM_001041.4(SI):c.832C>T (p.Gln278Ter) rs754468827 0.00001
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
NM_001041.4(SI):c.1023del (p.Val342fs)
NM_001041.4(SI):c.1300C>T (p.Arg434Ter)
NM_001041.4(SI):c.1404G>A (p.Trp468Ter)
NM_001041.4(SI):c.1543_1546delinsCTTTATTCCAGCTTTATA (p.Gly515fs)
NM_001041.4(SI):c.1624A>T (p.Lys542Ter)
NM_001041.4(SI):c.1655G>A (p.Trp552Ter)
NM_001041.4(SI):c.1880del (p.Ile627fs)
NM_001041.4(SI):c.1910delinsGTCTTC (p.Phe637fs)
NM_001041.4(SI):c.2004+1G>A
NM_001041.4(SI):c.2028dup (p.Gln677fs)
NM_001041.4(SI):c.2042del (p.Leu681fs)
NM_001041.4(SI):c.2159+2T>G rs1553775177
NM_001041.4(SI):c.2426+1G>A
NM_001041.4(SI):c.2491_2492del (p.Phe831fs)
NM_001041.4(SI):c.2654_2657del (p.Asp885fs) rs1221816681
NM_001041.4(SI):c.2687del (p.Asn896fs)
NM_001041.4(SI):c.2737-1G>C rs1294620045
NM_001041.4(SI):c.285G>A (p.Trp95Ter)
NM_001041.4(SI):c.2865C>A (p.Cys955Ter) rs2108202378
NM_001041.4(SI):c.2893-1G>A
NM_001041.4(SI):c.2945_2946del (p.Ser982fs)
NM_001041.4(SI):c.3099+1G>C
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer) rs776569472
NM_001041.4(SI):c.3207_3209delinsTT (p.Glu1069fs)
NM_001041.4(SI):c.3335_3336dup (p.Gly1113fs)
NM_001041.4(SI):c.3521-1G>T
NM_001041.4(SI):c.3532C>T (p.Gln1178Ter) rs898055093
NM_001041.4(SI):c.3586_3587del (p.Met1196fs) rs780535026
NM_001041.4(SI):c.3629dup (p.His1210fs)
NM_001041.4(SI):c.3631G>T (p.Glu1211Ter)
NM_001041.4(SI):c.3760-1G>A
NM_001041.4(SI):c.3943C>T (p.Gln1315Ter)
NM_001041.4(SI):c.404_405insCACCTACACTATTTGGAAATGACATCA (p.Ser135_Pro136insThrTyrThrIleTrpLysTer)
NM_001041.4(SI):c.4094dup (p.Phe1366fs)
NM_001041.4(SI):c.4208_4223del (p.Asn1403fs)
NM_001041.4(SI):c.4359C>G (p.Tyr1453Ter)
NM_001041.4(SI):c.4382G>A (p.Trp1461Ter)
NM_001041.4(SI):c.4561_4564del (p.Phe1521fs)
NM_001041.4(SI):c.4575+2T>C
NM_001041.4(SI):c.457del (p.Gln153fs)
NM_001041.4(SI):c.4602dup (p.Asn1535fs)
NM_001041.4(SI):c.4841+1G>A
NM_001041.4(SI):c.4927-1G>A
NM_001041.4(SI):c.545dup (p.Pro183fs)
NM_001041.4(SI):c.570T>A (p.Tyr190Ter)
NM_001041.4(SI):c.635+2T>C rs1185991890
NM_001041.4(SI):c.682C>T (p.Gln228Ter)
NM_001041.4(SI):c.834_837del (p.Gln278fs)
NM_001041.4(SI):c.853G>T (p.Glu285Ter) rs758259365
NM_001041.4(SI):c.886_887dup (p.Leu296fs)

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